G5G (p.Gly5Gly) variant of GATA1 (Erythroid transcription factor)
G5G (p.Gly5Gly) in GATA1 (Erythroid transcription factor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G5G (p.Gly5Gly) variant details
- p.Gly5Gly
- rs1390633618
- gnomAD X-48791124-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 9.49
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available